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Orphanet Journal of Rare Diseases|May 1, 2021
Myocardial strain analysis using cardiac magnetic resonance in patients with calpainopathySilvio Quick, Max Winkler, Uwe Speiser, et al.
Orphanet Journal of Rare Diseases|May 1, 2021
Medium-term outcomes after laparoscopic revision of laparoscopic Kasai portoenterostomy in patients with biliary atresiaYi Ji, Xuepeng Zhang, Siyuan Chen, et al.
Orphanet Journal of Rare Diseases|May 2, 2021
PH CARE COVID survey: an international patient survey on the care for pulmonary hypertension patients during the early phase of the COVID-19 pandemicLaurent Godinas, Keerthana Iyer, Gergely Meszaros, et al.
Orphanet Journal of Rare Diseases|May 15, 2021
Presymptomatic treatment of classic late-infantile neuronal ceroid lipofuscinosis with cerliponase alfaJ Schaefers, L J van der Giessen, C Klees, et al.
Orphanet Journal of Rare Diseases|May 20, 2021
Lymphoproliferative malignancies in patients with neurofibromatosis 1Christina Bergqvist, François Hemery, Arnaud Jannic, et al.
Orphanet Journal of Rare Diseases|May 20, 2021
Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in GermansChristian Schwarm, Damian Gola, Maike M Holtsche, et al.
Orphanet Journal of Rare Diseases|May 20, 2021
Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patientGiorgia Olivieri, Diego Martinelli, Daniela Longo, et al.
Orphanet Journal of Rare Diseases|May 6, 2021
Down regulation of the expression of mitochondrial phosphopantetheinyl-proteins in pantothenate kinase-associated neurodegeneration: pathophysiological consequences and therapeutic perspectivesMónica Álvarez-Córdoba, Marta Talaverón-Rey, Irene Villalón-García, et al.
Orphanet Journal of Rare Diseases|May 14, 2021
Calcium channelopathies and intellectual disability: a systematic reviewMiriam Kessi, Baiyu Chen, Jing Peng, et al.
Orphanet Journal of Rare Diseases|June 25, 2020
Raising rare disease awareness using red flags, role play simulation and patient educators: results of a novel educational workshop on Raynaud phenomenon and systemic sclerosisS Sanges, M-M Farhat, M Assaraf, et al.
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